## Abstract Monozygotic (MZ), 46βyearβold, male twins, carrying the same Huntington disease (HD) mutation, presented with a different clinical course. In one of the twins, the disease process started at the age of 32 years with chorea, dysarthria, and a depressed mood. Over 14 years, the disease pr
Different phenotypic expression of fabry disease in female monozygotic twins
β Scribed by T. Levade; F. Giordano; A. Maret; M.-C. Marguery; J. Bazex; R. Salvayre
- Book ID
- 105314548
- Publisher
- Springer
- Year
- 1991
- Tongue
- English
- Weight
- 165 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0141-8955
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## Abstract Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of the copperβtransporting protein adenosine triphosphatase 7B (ATPβase 7B). The disease is caused by mutations in __ATP7B__ gene. It seems that the type of mutation in __ATP7B__ only to
Two male relatives with Fabry disease presented striking differences in clinical symptoms and age of onset. The propositus had retarded statural growth and skeletal dysplasia while his nephew suffered mainly from aggravating acroparesthesia and celiac disease. Fabry disease is an X-linked inborn err